Linked Data
ClinVar Variation Id:
315576
ClinVar RCV Id:
RCV000290857
dbSNP Id:
rs748613902
gnomAD v2:
15-34523790-TTTC-T
gnomAD v3:
15-34231589-TTTC-T
gnomAD v4:
15-34231589-TTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34231592_34231594del , CM000677.2:g.34231592_34231594del | GRCh38 |
| NC_000015.9:g.34523793_34523795del , CM000677.1:g.34523793_34523795del | GRCh37 |
| NC_000015.8:g.32311085_32311087del | NCBI36 |
| NG_007951.1:g.111473_111475del , LRG_270:g.111473_111475del | |
| NG_054746.1:g.11596_11598del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.*2289_*2291del MANE Select | ENSP00000346112.3:n.*2289_*2291del | |
| ENST00000676379.1:c.*908_*910del | ENSP00000502539.1:n.*908_*910del | |
| ENST00000290209.9:c.*2289_*2291del | ENSP00000290209.5:n.*2289_*2291del | |
| NM_001042494.1:c.*2289_*2291del | NP_001035959.1:n.*2289_*2291del | |
| NM_001042495.1:c.*2289_*2291del | NP_001035960.1:n.*2289_*2291del | |
| NM_001042496.1:c.*2289_*2291del | NP_001035961.1:n.*2289_*2291del | |
| NM_001042497.1:c.*2289_*2291del | NP_001035962.1:n.*2289_*2291del | |
| NM_005135.2:c.*2289_*2291del , LRG_270t1:c.*2289_*2291del | NP_005126.1:n.*2289_*2291del | |
| NM_133647.1:c.*2289_*2291del , LRG_270t2:c.*2289_*2291del | NP_598408.1:n.*2289_*2291del | |
| XM_011522267.1:c.*2289_*2291del | XP_011520569.1:n.*2289_*2291del | |
| XM_011522268.1:c.*2289_*2291del | XP_011520570.1:n.*2289_*2291del | |
| XR_429476.2:n.5456+292_5456+294del | ||
| NM_001365088.1:c.*2289_*2291del MANE Select | NP_001352017.1:n.*2289_*2291del | |
| XM_006720793.4:c.*2289_*2291del | XP_006720856.1:n.*2289_*2291del | |
| NM_001042494.2:c.*2289_*2291del | NP_001035959.1:n.*2289_*2291del | |
| NM_001042495.2:c.*2289_*2291del | NP_001035960.1:n.*2289_*2291del | |
| NM_001042496.2:c.*2289_*2291del | NP_001035961.1:n.*2289_*2291del | |
| NM_001042497.2:c.*2289_*2291del | NP_001035962.1:n.*2289_*2291del | |
| NM_133647.2:c.*2289_*2291del | NP_598408.1:n.*2289_*2291del |